Unique case of sporadic multiple gastro intestinal stromal tumour. (2015)

• Record Type: Journal Article
• Authors: Graziosi, Luigina; Marino, Elisabetta; Ludovini, Vienna; Rebonato, Alberto; Angelis, Verena De; Donini, Annibale
• Is Part Of: International journal of surgery case reports. Volume 9(2015)
• Page Start: 98
• Page End: 100
• Publication Date: 2015
• Subjects: Gastrointestinal stromal tumour -- Multiple gist -- V559A/1676 T > C; Surgery -- Periodicals; Surgical Procedures, Operative -- Periodicals; Surgery; Electronic journals; Periodicals; 617.005
• DOI: 10.1016/j.ijscr.2015.01.025
• Languages: English
• ISSNs: 2210-2612

Abstract

Abstract: Introduction: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and they derived from transformed neoplastic precursors of Cajal's interstitial cell (ICC). Presentation of the case: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient. Our patient showed anemia for the gastric GIST bleeding and only after other tumors were instrumentally and intra-surgery discovered. The patient showed genetic mutation V559A/1676 T > C of the juxtamembrane domain of the exon 11 causing the replacement of Valine with Alanine in the 559 codon. Discussion: GISTS estimated annual incidence is 12–14 per million. Multiple GISTs associated with familiarity or hereditary syndromes are described only in few case reports and sporadic mGISTs have not been studied yet. Literature review has been done. Conclusion: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient localized trough out all the gastrointestinal tract. This is the only case of sporadic multiple GISTs reported in literature.